title: The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.
abstract: OBJECTIVE
  We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major.
  
  
  METHODS
  Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients. T2* magnetic resonance imaging (MRI) scans were also performed. The HFE polymorphisms (H63D, C282Y, S65C, Q283P, E168Q, E168X, W169X, P160delC, Q127H, H63H, V59M, and V53M) were studied using polymerase chain reaction.
  
  
  RESULTS
  The H63D polymorphism was detected in six patients with beta-thalassemia major. Five patients were heterozygous for the H63D polymorphism, while one was homozygous. There were no other polymorphisms. There was no relationship between the HFE polymorphisms and either the serum ferritin levels or the T2-weighted MRI values (P > .05). Moreover, conventional echo and tissue Doppler echo findings were not correlated with the HFE polymorphisms. Pulmonary vein atrial reversal flow velocity, which is a manifestation of diastolic dysfunction measured with pulse wave echo, was higher in the patients with HFE polymorphisms (P = .036).
  
  
  CONCLUSIONS
  The HFE polymorphisms had no effect on cardiac iron overload. However, pulmonary vein atrial reversal flow velocity measurements can provide important information for detecting diastolic dysfunction during cardiac follow-up of patients with HFE polymorphisms. Studies with more patients are needed to provide more information regarding this matter.
authors.affiliation: Department of Pediatric Hematology, Diyarbakir Children's Hospital , Diyarbakir , Turkey.
authors.forename: Aysen
authors.initials: A
authors.lastname: Turedi
authors.forename: Yesim
authors.initials: Y
authors.lastname: Oymak
authors.forename: Timur
authors.initials: T
authors.lastname: Meşe
authors.forename: Yöntem
authors.initials: Y
authors.lastname: Yaman
authors.forename: Selen
authors.initials: S
authors.lastname: Bayraktaroglu
authors.forename: Asude
authors.initials: A
authors.lastname: Alpman
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Aydınok
authors.forename: Canan
authors.initials: C
authors.lastname: Vergin
mesh_terms: D002648:Child; D005260:Female; D005293:Ferritins / Q000097:blood / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D019190:Iron Overload / Q000097:blood / Q000209:etiology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications / Q000235:genetics*
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D005293:Ferritins